Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Ekici, Filiz; Özçobanoğlu, Salih; Kardelen, Fırat

doi:10.4274/balkanmedj.2017.0490

Cited by 4 publications

(1 citation statement)

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“…Описаны также случаи выполнения операции коронарного шунтирования по поводу тяжелого многососудистого атеросклеротического поражения коронарного русла детям с го-СГХС. В текущем 2018 г. опубликован один из таких случаев, когда у 12-летней девочки с тяжелой гиперхолестеринемией (ХС ЛПНП 14,4 ммоль/л) и проявлениями ишемии миокарда во время нагрузочного теста под контролем ЭКГ при проведении коронароангиографии обнаружено тяжелое атеросклеротическое поражение коронарного русла, потребовавшее выполнения коронарного шунтирования [15].…”

Section: лпнп представляют собой сложные белковолипидные надмолекулярные комплексы призванные транспортировать в клетки холестерин и полиunclassified

Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

et al. 2018

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Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life, resulting to premature death due to atherosclerosis-related diseases. Modern combined lipid-lowering therapy is able to increase life duration considerably for these patients.

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Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

et al. 2018

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Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care

Balla

Ekpo

Wilemon

et al. 2020

Curr Atheroscler Rep

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Case of homozygous familial hypercholesterolaemia with premature coronary artery disease

et al. 2021

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Familial hypercholesterolaemia is a genetic disorder secondary to mutation of one or more of the genes critical for low-density lipoprotein cholesterol (LDL-C) metabolism; these mutation(s) cause highly elevated serum LDL-C, significantly increasing the risk of early cardiovascular events and mortality. Homozygous familial hypercholesterolaemia (HoFH) is rare and often leads to accelerated coronary atherosclerosis presenting within the first two decades of life. We report a case of a 14-year-old boy who presented after surviving a ventricular fibrillation cardiac arrest. His highly elevated LDL-C level prompted further workup and led to a diagnosis of HoFH. The treatment included medical therapy and coronary artery bypass grafting. The patient also required referral for lipid apheresis to meet goal LDL-C level, and an automated implantable cardioverter defibrillator for secondary prevention of sudden cardiac death. HoFH, if left untreated, can have devastating consequences Therefore, timely diagnosis initiating appropriate therapy is important.

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Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Abstract: Children with homozygous familial hypercholesterolemia may present with symptoms of premature coronary heart disease requiring a routine lipid test and careful anamnesis.

Cited by 4 publications

References 13 publications

Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care

Case of homozygous familial hypercholesterolaemia with premature coronary artery disease

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